Variant report

Variant	rs72654051
Chromosome Location	chr4:86411031-86411032
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:86401205..86403533-chr4:86408798..86411412,2	MCF-7	breast:
2	chr4:86395242..86398879-chr4:86409441..86412453,3	MCF-7	breast:
3	chr4:86317452..86319452-chr4:86408462..86411289,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000138639	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10433935	1.00[AFR][1000 genomes]
rs11097055	1.00[ASN][1000 genomes]
rs55724051	1.00[AFR][1000 genomes]
rs72654047	1.00[ASN][1000 genomes]
rs7680658	0.90[ASN][1000 genomes]
rs7681693	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv519588	chr4:85762385-86591202	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv461566	chr4:85988032-86725502	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
3	nsv594747	chr4:85988032-86725502	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
4	nsv470048	chr4:85998783-86720838	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
5	esv3331664	chr4:86234879-86421961	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:86399200-86412600	Weak transcription	Pancreas	Pancrea
2	chr4:86403400-86412400	Weak transcription	Primary B cells from cord blood	blood
3	chr4:86408200-86412600	Weak transcription	Fetal Lung	lung
4	chr4:86408200-86416200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr4:86408400-86412800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr4:86409200-86411200	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr4:86409200-86411400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr4:86409200-86411600	Enhancers	Primary B cells from peripheral blood	blood
9	chr4:86409200-86411800	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr4:86409600-86411200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr4:86409600-86411400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr4:86409800-86411200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr4:86409800-86412000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr4:86409800-86412600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr4:86409800-86418600	Weak transcription	Gastric	stomach
16	chr4:86410400-86412000	Enhancers	Fetal Heart	heart
17	chr4:86410600-86411200	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr4:86410800-86411400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr4:86410800-86411800	Flanking Active TSS	A549	lung
20	chr4:86410800-86412600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr4:86410800-86412600	Weak transcription	Left Ventricle	heart
22	chr4:86410800-86416800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr4:86410800-86416800	Weak transcription	Placenta	Placenta
24	chr4:86410800-86416800	Weak transcription	Osteobl	bone
25	chr4:86410800-86417000	Weak transcription	Right Atrium	heart
26	chr4:86410800-86417200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr4:86410800-86417800	Weak transcription	Colon Smooth Muscle	Colon
28	chr4:86411000-86412600	Weak transcription	Fetal Muscle Leg	muscle
29	chr4:86411000-86412600	Weak transcription	Right Ventricle	heart
30	chr4:86411000-86412600	Weak transcription	HSMM	muscle
31	chr4:86411000-86412600	Weak transcription	HSMMtube	muscle
32	chr4:86411000-86412800	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr4:86411000-86416200	Weak transcription	NHDF-Ad	bronchial
34	chr4:86411000-86416800	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr4:86411000-86417400	Weak transcription	Stomach Mucosa	stomach

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